Gyrate atrophy of the choroid and retina: Deficiency of ornithine aminotransferase in transformed lymphocytes

摘要: Abstract Gyrate atrophy of the choroid and retina is an inherited form chorioretinal degeneration associated with hyperornithinemia. We measured activity ornithine aminotransferase (L-ornithine:2-oxo-acid aminotransferase, EC 2.6.1.13) in phytohemagglutinin-stimulated lymphocytes a patient gyrate her daughter. The patient's cells had no detectable activity, heterozygote's was 44% normal values. Measurements [3H]thymidine incorporation other transformation-affected enzymes verified that were transformed. These results demonstrate enzyme deficiency atrophy.